PDF(Pubmed)
Abstract：
Hereditary myotonia (HM) is characterized by delayed muscle relaxation after contraction as a result of a mutation in the CLCN1 gene. We describe here a complex CLCN1 variant in a mixed-breed dog with clinical and electromyographic signs of HM. Blood samples from the myotonic dog, as well as from his male littermate and parents, were analyzed via amplification of the 23 exons encoding CLCN1. After sequencing the CLCN1 gene, a complex variant was found in exon 6 c.[705T>G; 708del; 712_732del], resulting in a premature stop codon in exon 7 and a protein that was 717 amino acids shorter than the normal CLC protein. The myotonic dog was identified as homozygous recessive for the complex CLCN1 variant; its parents were heterozygous, and its male littermate was homozygous wild-type. Knowledge of the CLCN1 mutations responsible for the development of hereditary myotonia allows greater clarification of this condition.
摘要：
遗传性肌强直（HM）的特征是由于CLCN1基因突变导致收缩后肌肉松弛延迟。我们在这里描述了具有HM临床和肌电图征象的混种犬中的复杂CLCN1变体。强直肌犬的血样,以及他的男性同窝伴侣和父母，通过编码CLCN1的23个外显子的扩增进行分析。对CLCN1基因进行测序后，在外显子6c中发现了一个复杂的变体。[705T>G;708del;712_732del]，导致外显子7中的提前终止密码子和比正常CLC蛋白短717个氨基酸的蛋白质。强直性犬被鉴定为复杂CLCN1变体的纯合隐性；它的亲本是杂合的，它的雄性同窝同窝是纯合野生型。了解负责遗传性肌强直发展的CLCN1突变可以更好地澄清这种情况。
